Search Results - Fahiminiya, Somayyeh

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data by Nadaf, Javad, Majewski, Jacek, Fahiminiya, Somayyeh

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Proteomic analysis of mare follicular fluid during late follicle development by Fahiminiya, Somayyeh, Labas, Valérie, Roche, Stéphane, Dacheux, Jean-Louis, Gérard, Nadine

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Methodologies for Transcript Profiling Using Long-Read Technologies by Oikonomopoulos, Spyros, Bayega, Anthony, Fahiminiya, Somayyeh, Djambazian, Haig, Berube, Pierre, Ragoussis, Jiannis

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Steroid hormones content and proteomic analysis of canine follicular fluid during the preovulatory period by Fahiminiya, Somayyeh, Reynaud, Karine, Labas, Valérie, Batard, Séverine, Chastant-Maillard, Sylvie, Gérard, Nadine

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Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing by Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima

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Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing by Imai, Atsuko, Nakaya, Akihiro, Fahiminiya, Somayyeh, Tétreault, Martine, Majewski, Jacek, Sakata, Yasushi, Takashima, Seiji, Lathrop, Mark, Ott, Jurg

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Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma by Bah, Ismaël, Fahiminiya, Somayyeh, Bégin, Louis R, Hamel, Nancy, D'Agostino, Maria D, Tanguay, Simon, Foulkes, William D

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Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB by Rauch, Frank, Fahiminiya, Somayyeh, Majewski, Jacek, Carrot-Zhang, Jian, Boudko, Sergei, Glorieux, Francis, Mort, John S., Bächinger, Hans-Peter, Moffatt, Pierre

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Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A by Gupta, Swati, Fahiminiya, Somayyeh, Wang, Tracy, Dempsey Nunez, Laura, Rosenblatt, David S., Gibson, William T., Gilfix, Brian, Bergeron, John J. M., Jerome-Majewska, Loydie A.

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An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase by Hinttala, Reetta, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Brunel-Guitton, Catherine, Schwartzentruber, Jeremy, Fahiminiya, Somayyeh, Majewski, Jacek, Faubert, Denis, Ostergaard, Elsebet, Smeitink, Jan A., Shoubridge, Eric A.

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A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features by Evans, Daniel R., Green, Jane S., Fahiminiya, Somayyeh, Majewski, Jacek, Fernandez, Bridget A., Deardorff, Matthew A., Johnson, Gordon J., Whelan, James H., Hubmacher, Dirk, Apte, Suneel S., Woods, Michael O.

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Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects by Munns, Craig F., Fahiminiya, Somayyeh, Poudel, Nabin, Munteanu, Maria Cristina, Majewski, Jacek, Sillence, David O., Metcalf, Jordan P., Biggin, Andrew, Glorieux, Francis, Fassier, François, Rauch, Frank, Hinsdale, Myron E.

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ARHGDIA: a novel gene implicated in nephrotic syndrome by Gupta, Indra Rani, Baldwin, Cindy, Auguste, David, Ha, Kevin C H, El Andalousi, Jasmine, Fahiminiya, Somayyeh, Bitzan, Martin, Bernard, Chantal, Akbari, Mohammad Reza, Narod, Steven A, Rosenblatt, David S, Majewski, Jacek, Takano, Tomoko

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SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome by Janer, Alexandre, Prudent, Julien, Paupe, Vincent, Fahiminiya, Somayyeh, Majewski, Jacek, Sgarioto, Nicolas, Des Rosiers, Christine, Forest, Anik, Lin, Zhen‐Yuan, Gingras, Anne‐Claude, Mitchell, Grant, McBride, Heidi M, Shoubridge, Eric A

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Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2 by Moffatt, Pierre, Ben Amor, Mouna, Glorieux, Francis H., Roschger, Paul, Klaushofer, Klaus, Schwartzentruber, Jeremy A., Paterson, Andrew D., Hu, Pingzhao, Marshall, Christian, Fahiminiya, Somayyeh, Majewski, Jacek, Beaulieu, Chandree L., Boycott, Kym M., Rauch, Frank

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Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor by Fahiminiya, Somayyeh, Witkowski, Leora, Nadaf, Javad, Carrot-Zhang, Jian, Goudie, Catherine, Hasselblatt, Martin, Johann, Pascal, Kool, Marcel, Lee, Ryan S., Gayden, Tenzin, Roberts, Charles W. M., Biegel, Jaclyn A., Jabado, Nada, Majewski, Jacek, Foulkes, William D.

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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis by Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E

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Poorly differentiated thyroid carcinoma of childhood and adolescence: A distinct entity characterized by DICER1 mutations by Chernock, Rebecca D, Rivera, Barbara, Borrelli, Nicla, Hill, D. Ashley, Fahiminiya, Somayyeh, Shah, Tasha, Chong, Anne-Sophie, Aqil, Barina, Mehrad, Mitra, Giordano, Thomas J, Sheridan, Rachel, Rutter, Meilan M, Dehner, Louis P., Foulkes, William D., Nikiforov, Yuri E

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Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC by Mendoza-Londono, Roberto, Fahiminiya, Somayyeh, Majewski, Jacek, Tétreault, Martine, Nadaf, Javad, Kannu, Peter, Sochett, Etienne, Howard, Andrew, Stimec, Jennifer, Dupuis, Lucie, Roschger, Paul, Klaushofer, Klaus, Palomo, Telma, Ouellet, Jean, Al-Jallad, Hadil, Mort, John S., Moffatt, Pierre, Boudko, Sergei, Bächinger, Hans-Peter, Rauch, Frank

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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS by McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A

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